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Metabolic and cardiovascular traits: an abundance of recently identified common genetic variants

Summary: Metabolic and cardiovascular traits: an abundance
of recently identified common genetic variants
Karen L. Mohlke1,√
, Michael Boehnke2 and Goncłalo R. Abecasis2
Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA and 2
for Statistical Genetics, Department of Biostatistics, University of Michigan, Ann Arbor, MI 48109, USA
Received August 26, 2008; Revised and Accepted August 29, 2008
Genome-wide association studies are providing new insights into the genetic basis of metabolic and cardi-
ovascular traits. In the past 3 years, common variants in 50 loci have been strongly associated with meta-
bolic and cardiovascular traits. Several of these loci have implicated genes without a previously known
connection with metabolism. Further studies will be required to characterize the full impact of these loci
on metabolism. Many of the identified loci include multiple independent variants that influence the same
metabolic or cardiovascular trait and a few loci harbor independent variants that each influence distinct
traits. The total proportion of trait heritability explained by variants identified so far is still modest (typically
<10%). Future studies will build on these successes by identifying additional common and rare variants and
by determining the functional impact of the underlying alleles and genes.
Metabolic and cardiovascular diseases (CVD) are common,


Source: Abecasis, Goncalo - Department of Biostatistics, University of Michigan


Collections: Biology and Medicine; Mathematics